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注意:仅列出部分参考文献,下载原文获取全部文献信息。Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families:: Implications for genetic testing
Janos Papp et al.
WORLD JOURNAL OF GASTROENTEROLOGY (2007)
Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations
Steffen Pistorius et al.
CANCER LETTERS (2007)
Brief report:: Inheritance of a cancer-associated MLH1 germ-line epimutation
Megan P. Hitchins et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
Mechanisms in eukaryotic mismatch repair
Paul Modrich
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Hereditary non-polyposis colorectal cancer: The rise and fall of a confusing term
Jeremy R. Jass
WORLD JOURNAL OF GASTROENTEROLOGY (2006)
Diagnostic approach and management of Lynch syndrome (Hereditary Nonpolyposis Colorectal Carcinoma):: A guide for clinicians
Yvonne M. C. Hendriks et al.
CA-A CANCER JOURNAL FOR CLINICIANS (2006)
DNA mismatch repair: Functions and mechanisms
RR Iyer et al.
CHEMICAL REVIEWS (2006)
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome)
YMC Hendriks et al.
GASTROENTEROLOGY (2006)
Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers
J Zhang et al.
CANCER RESEARCH (2006)
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer
M Hitchins et al.
GASTROENTEROLOGY (2005)
Characterisation of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients
LM Baudhuin et al.
GASTROENTEROLOGY (2005)
Deletions account for 17% of pathogenic germline alterations in MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families
M Grabowski et al.
GENETIC TESTING (2005)
Extensive but Hemiallelic Methylation of the hMLH1 Promoter Region in Early-Onset Sporadic Colon Cancers With Microsatellite Instability
Yasuyuki Miyakura et al.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY (2004)
Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification
DJ Bunyan et al.
BRITISH JOURNAL OF CANCER (2004)
Family cancer histories predictive of a high risk of hereditary non-polyposis colorectal cancer associate significantly with a genomic rearrangement in hMSH2 or hMLH1
PJ Ainsworth et al.
CLINICAL GENETICS (2004)
Mismatch repair gene PMS2:: Disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation
H Nakagawa et al.
CANCER RESEARCH (2004)
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations:: Impact on counseling and surveillance
YMC Hendriks et al.
GASTROENTEROLOGY (2004)
Mutations associated with HNPCC predisposition - Update of ICG-HNPCC/INSiGHT mutation database
P Peltomaki et al.
DISEASE MARKERS (2004)
Germline epimutation of MLH1 in individuals with multiple cancers
CM Suter et al.
NATURE GENETICS (2004)
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States:: High mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene
A Wagner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Role of DNA mismatch repair defects in the pathogenesis of human cancer
P Peltomäki
JOURNAL OF CLINICAL ONCOLOGY (2003)
Hereditary nonpolyposis colorectal cancer:: Frequent occurrence of large genomic deletions in MSH2 and MLH1 genes
YP Wang et al.
INTERNATIONAL JOURNAL OF CANCER (2003)
Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach
JJP Gille et al.
BRITISH JOURNAL OF CANCER (2002)
Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype
N Ohmiya et al.
GENE (2001)
DNA methylation, chromatin inheritance, and cancer
MR Rountree et al.
ONCOGENE (2001)
Germline and somatic mutation analysis of MLH3 in MSI-positive colorectal cancer
A Loukola et al.
AMERICAN JOURNAL OF PATHOLOGY (2000)
Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene
M De Rosa et al.
ONCOGENE (2000)